A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945747



Internal ID21365816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2019220..2019220hg38UCSC Ensembl
chr1:1950659..1950659hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15192895
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945747
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer